Canonical Allele Identifier: CA624662938
Community Standard Title: NM_014336.5(AIPL1):c.466-20_466-16del
Gene: AIPL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6427076_6427080del , CM000679.2:g.6427076_6427080del GRCh38
NC_000017.10:g.6330396_6330400del , CM000679.1:g.6330396_6330400del GRCh37
NC_000017.9:g.6271120_6271124del NCBI36
NG_008474.1:g.13123_13127del

Transcript Alleles

HGVS Amino-acid Change
NM_014336.5:c.466-20_466-16del MANE Select NP_055151.3:n.466-20_466-16del
ENST00000381129.8:c.466-20_466-16del MANE Select ENSP00000370521.3:n.466-20_466-16del
NM_001033054.2:c.277-20_277-16del NP_001028226.1:n.277-20_277-16del
NM_001033054.3:c.277-20_277-16del NP_001028226.1:n.277-20_277-16del
NM_001033055.2:c.286-20_286-16del NP_001028227.1:n.286-20_286-16del
NM_001033055.3:c.286-20_286-16del NP_001028227.1:n.286-20_286-16del
NM_001285399.2:c.430-20_430-16del NP_001272328.1:n.430-20_430-16del
NM_001285399.3:c.430-20_430-16del NP_001272328.1:n.430-20_430-16del
NM_001285400.2:c.400-20_400-16del NP_001272329.1:n.400-20_400-16del
NM_001285400.3:c.400-20_400-16del NP_001272329.1:n.400-20_400-16del
NM_001285401.2:c.466-20_466-16del NP_001272330.1:n.466-20_466-16del
NM_001285401.3:c.466-20_466-16del NP_001272330.1:n.466-20_466-16del
NM_001285402.1:c.349-20_349-16del NP_001272331.1:n.349-20_349-16del
NM_001285402.2:c.349-20_349-16del NP_001272331.1:n.349-20_349-16del
NM_001285403.2:c.466-44_466-40del NP_001272332.1:n.466-44_466-40del
NM_001285403.3:c.466-44_466-40del NP_001272332.1:n.466-44_466-40del
NM_001285403.4:c.466-44_466-40del NP_001272332.1:n.466-44_466-40del
NM_014336.4:c.466-20_466-16del NP_055151.3:n.466-20_466-16del
ENST00000250087.9:c.277-20_277-16del ENSP00000250087.5:n.277-20_277-16del
ENST00000381128.2:c.*338-20_*338-16del ENSP00000370520.2:n.*338-20_*338-16del
ENST00000381129.7:c.466-20_466-16del ENSP00000370521.3:n.466-20_466-16del
ENST00000570466.5:c.400-20_400-16del ENSP00000461287.1:n.400-20_400-16del
ENST00000570584.5:c.251+6842_251+6846del
ENST00000571740.5:c.466-44_466-40del ENSP00000460134.1:n.466-44_466-40del
ENST00000574506.5:c.430-20_430-16del ENSP00000458456.1:n.430-20_430-16del
ENST00000574913.1:c.466-8_466-4del ENSP00000460672.1:n.466-8_466-4del
ENST00000575265.5:c.466-20_466-16del ENSP00000459673.1:n.466-20_466-16del
ENST00000576307.5:c.286-20_286-16del ENSP00000459522.1:n.286-20_286-16del
ENST00000576776.5:c.466-20_466-16del ENSP00000460827.1:n.466-20_466-16del
ENST00000621374.4:c.466-20_466-16del ENSP00000481337.1:n.466-20_466-16del